Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Bastepe, M; Fröhlich, LF; Linglart, A; Abu-Zahra, HS; Tojo, K; Ward, LM; Jüppner, H.
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib.
Nat Genet. 2005; 37(1): 25-27.
Doi: 10.1038/ng1487
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PubMed
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- Co-authors Med Uni Graz
- Fröhlich Leopold F.
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- Abstract:
- Epigenetic defects in the imprinted GNAS cluster are associated with pseudohypoparathyroidism type Ib. In two kindreds with this disorder, we now report deletions that remove the differentially methylated region encompassing exon NESP55 and exons 3 and 4 of the antisense transcript. When inherited from a female, either deletion abolishes all maternal GNAS imprints and derepresses maternally silenced transcripts, suggesting that the deleted region contains a cis-acting element that controls imprinting of the maternal GNAS allele.
- Find related publications in this database (using NLM MeSH Indexing)
- Base Sequence -
- DNA Methylation -
- GTP-Binding Protein alpha Subunits, Gs - genetics
- Gene Silencing - genetics
- Humans - genetics
- Membrane Proteins - genetics
- Nerve Tissue Proteins - genetics
- Pseudohypoparathyroidism - enzymology
- Sequence Analysis, DNA - enzymology
- Sequence Deletion - enzymology